ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_30200 | A sequence alteration has been identified in EFNB1 (ephrin B1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not provided | TCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCTTGAATCA... | TCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCTTGAATCA... |
Task1_train_30201 | This alteration occurs within gene EFNB1 (ephrin B1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Craniofrontonasal syndrome | CCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGC... | CCCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGC... |
Task1_train_30202 | An alteration has been detected in EFNB1 (ephrin B1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Craniofrontonasal syndrome | CCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCG... | CCAGTGCCTGGCCTTCTGGATTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCG... |
Task1_train_30203 | A genomic change on Chromosome X affects EFNB1 (ephrin B1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCC... | TTAGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCC... |
Task1_train_30204 | The gene EFNB1 (ephrin B1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Craniofrontonasal syndrome | AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCAT... | AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCAT... |
Task1_train_30205 | Assess the clinical impact of this variant on gene EFNB1 (ephrin B1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Craniofrontonasal syndrome | AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCAT... | AGAATATGAACCTGGCTCAAAAGGCATTTGTCCATCTCCTCTCAGGAGCTGGAGTAGGAGCAACATAGAGGTGACAGGTTAGGATACAGATGAGGCCCTATCTTCTATGATCTGTTGTCTCTGGTTGAGCCCCTTCTCTTCTCCTCTGTTCTTTTTAAGAATGAGATGAATCAAGTTTAGGAATTCAGGCTCTTGCATTTTGAGGGTGGGATGAATTGCCAGTAGGACAATAGGCAGTGGGAGTGAGCAGAGCTGCACCTGGCCAGAGACTGTGGCCATCATCCCTTTGCTCCAGGCGATGCCTGTTCCTATCTTTCCAT... |
Task1_train_30206 | Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGA... | AGGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGA... |
Task1_train_30207 | Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... |
Task1_train_30208 | A variant was discovered on Chromosome X, affecting EDA (ectodysplasin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... |
Task1_train_30209 | The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... | GGCCCTGAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAG... |
Task1_train_30210 | A variant was discovered in gene EDA (ectodysplasin A), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTT... | AGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTT... |
Task1_train_30211 | Gene EDA (ectodysplasin A) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCT... | CAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCT... |
Task1_train_30212 | Gene EDA (ectodysplasin A) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCA... | CTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCA... |
Task1_train_30213 | A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | AACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTG... | AACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTG... |
Task1_train_30214 | Consider this mutation in EDA (ectodysplasin A) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTC... | TTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTC... |
Task1_train_30215 | Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTG... | CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTG... |
Task1_train_30216 | Gene EDA (ectodysplasin A) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Anhidrotic ectodermal dysplasia | CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTG... | CAGCACTCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTG... |
Task1_train_30217 | The gene EDA (ectodysplasin A) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... |
Task1_train_30218 | This variant impacts the gene EDA (ectodysplasin A) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... |
Task1_train_30219 | A genetic alteration is present in EDA (ectodysplasin A) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Tooth agenesis, selective, X-linked, 1 | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... | TCAAAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACA... |
Task1_train_30220 | The gene EDA (ectodysplasin A) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGA... | AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGA... |
Task1_train_30221 | A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; EDA-related disorder | AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGA... | AAGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGA... |
Task1_train_30222 | The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... |
Task1_train_30223 | The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... |
Task1_train_30224 | Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... |
Task1_train_30225 | The following genetic variant occurs in EDA (ectodysplasin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... | AGTTATCAAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGAT... |
Task1_train_30226 | Here is a genetic alteration in EDA (ectodysplasin A) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATT... | AAGAAAACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATT... |
Task1_train_30227 | This is a variant in EDA (ectodysplasin A), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTA... | AACTCTTCTATCCAGGATGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTA... |
Task1_train_30228 | An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATAT... | TAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATAT... |
Task1_train_30229 | This variant lies on Chromosome X and affects the gene EDA (ectodysplasin A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAAT... | TCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAAT... |
Task1_train_30230 | A variant has been detected on Chromosome X in EDA (ectodysplasin A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | ACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAA... | ACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAA... |
Task1_train_30231 | This gene mutation involves EDA (ectodysplasin A) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAG... | CCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAG... |
Task1_train_30232 | Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGA... | GGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGA... |
Task1_train_30233 | A variant affecting Chromosome X, within the gene EDA (ectodysplasin A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTG... | AGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTG... |
Task1_train_30234 | This variant lies on Chromosome X and affects the gene EDA (ectodysplasin A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAG... | AATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAG... |
Task1_train_30235 | This mutation occurs in EDA (ectodysplasin A) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | ATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGA... | ATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGA... |
Task1_train_30236 | An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | ATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCC... | ATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCC... |
Task1_train_30237 | This variant affects gene EDA (ectodysplasin A) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | ATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTG... | ATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTG... |
Task1_train_30238 | An alteration has been detected in EDA (ectodysplasin A) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAA... | TGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAA... |
Task1_train_30239 | This alteration in EDA (ectodysplasin A) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAAT... | GAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAAT... |
Task1_train_30240 | A mutation on Chromosome X affecting EDA (ectodysplasin A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... |
Task1_train_30241 | A genomic change on Chromosome X affects EDA (ectodysplasin A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Anhidrotic ectodermal dysplasia | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... |
Task1_train_30242 | Consider this mutation in EDA (ectodysplasin A) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... | TGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCC... |
Task1_train_30243 | The variant affects gene EDA (ectodysplasin A), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCT... | GTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCT... |
Task1_train_30244 | A variant was discovered in gene EDA (ectodysplasin A), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tooth agenesis, selective, 2 | TCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGG... | TCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGG... |
Task1_train_30245 | Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... |
Task1_train_30246 | Mutation context: Chromosome X, Gene EDA (ectodysplasin A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... |
Task1_train_30247 | With a mutation on Chromosome X in gene EDA (ectodysplasin A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... | GCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAG... |
Task1_train_30248 | Given this variant in gene EDA (ectodysplasin A) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGT... | CCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGT... |
Task1_train_30249 | This alteration occurs within gene EDA (ectodysplasin A) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATG... | GCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATG... |
Task1_train_30250 | Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTC... | GGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTC... |
Task1_train_30251 | A mutation on Chromosome X affecting EDA (ectodysplasin A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACT... | GGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACT... |
Task1_train_30252 | A genomic change on Chromosome X affects EDA (ectodysplasin A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | TATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGG... | TATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGG... |
Task1_train_30253 | This sequence variant lies in EDA (ectodysplasin A) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAA... | GAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAA... |
Task1_train_30254 | Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... |
Task1_train_30255 | A genetic alteration is present in EDA (ectodysplasin A) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Tooth agenesis, selective, X-linked, 1 | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... |
Task1_train_30256 | Here is a variant affecting EDA (ectodysplasin A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTT... |
Task1_train_30257 | Here is a variant affecting EDA (ectodysplasin A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATAT... | CGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATAT... |
Task1_train_30258 | A variant was discovered on Chromosome X, affecting EDA (ectodysplasin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tooth agenesis, selective, X-linked, 1 | AAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCT... | AAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCT... |
Task1_train_30259 | Located on Chromosome X, this mutation impacts EDA (ectodysplasin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGA... | GGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGA... |
Task1_train_30260 | A variant on Chromosome X in gene EDA (ectodysplasin A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTG... | CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTG... |
Task1_train_30261 | Assess the clinical impact of this variant on gene EDA (ectodysplasin A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTG... | CTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTG... |
Task1_train_30262 | The gene EDA (ectodysplasin A) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | GTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGC... | GTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGC... |
Task1_train_30263 | A sequence alteration has been identified in EDA (ectodysplasin A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hypohidrotic X-linked ectodermal dysplasia | AGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGT... | AGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGT... |
Task1_train_30264 | This variant affects the gene ARR3 (arrestin 3) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Myopia 26, X-linked, female-limited | ATGCTTTTAAACTTTATATAACCGGTAACATACTGTACCTATCATTCTGCAGCTAGATTTTTTGTTCAGTAGCTTTTTTTTTTTTTTTTTTCTGAGACAGAGACTCACTCTGTCACCCCCACTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGTATGCCACCATGCCCAGCTAATTTTTGTATTTTAGTAGAGACGGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGCGATCTGTC... | ATGCTTTTAAACTTTATATAACCGGTAACATACTGTACCTATCATTCTGCAGCTAGATTTTTTGTTCAGTAGCTTTTTTTTTTTTTTTTTTCTGAGACAGAGACTCACTCTGTCACCCCCACTGGAGGGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGTATGCCACCATGCCCAGCTAATTTTTGTATTTTAGTAGAGACGGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGCGATCTGTC... |
Task1_train_30265 | A mutation on Chromosome X affecting ARR3 (arrestin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Myopia 26, X-linked, female-limited | GGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCA... | GGAAAGAGGTCAGGCATTTTCTTATAGGCCCATGAGGAAGGGAGGACAGCACTGGAAATGAGCTCTCTTTGCCCTTGTCCCTTTACAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAGGTATTCTTTGGTTGTCCCCAAAAATCCCTGCCTCCAGCCTCTGCCAGGAAACAGATCCTGCTCTCATGACAGAAATAGCCCCACTTCTAACCTCCACAGCCTCATCGCCACCAGTGACACCCGGTTCTGAGTCCCCTCTGACTTACCTTCTTTGATCTAGGGCA... |
Task1_train_30266 | Consider a variant on Chromosome X in gene TEX11 (testis expressed 11). Determine its clinical classification and disease relevance. | Pathogenic; Non-obstructive azoospermia | GTCTGAAACTATGTCAAAATCAAAAGTTTAAAAATGTTAATACAAATCAACTGGAGGAAAAAGGTAGTGTAATCTTATGGTACACTAATGCCAGTCTACCCAGAAAGAGGCTGCTCAACTGTATTGGTCAGGCCTCACTGGAACATGGGGCTTGGCTTTTGGAAGGTGAGGTGACCAGATCACATGAGGAACAACTAAGGGGTCTGAGGATGTTTACCTCGAAGGAGAAAAAGCCTGGAGGACAAAGATAGGCCTGGCTTCTGTCTTCAGAGGCATCTCCAAGGGGCATCTGTGACACAGGAAGCAGATTTGTTACAGGG... | GTCTGAAACTATGTCAAAATCAAAAGTTTAAAAATGTTAATACAAATCAACTGGAGGAAAAAGGTAGTGTAATCTTATGGTACACTAATGCCAGTCTACCCAGAAAGAGGCTGCTCAACTGTATTGGTCAGGCCTCACTGGAACATGGGGCTTGGCTTTTGGAAGGTGAGGTGACCAGATCACATGAGGAACAACTAAGGGGTCTGAGGATGTTTACCTCGAAGGAGAAAAAGCCTGGAGGACAAAGATAGGCCTGGCTTCTGTCTTCAGAGGCATCTCCAAGGGGCATCTGTGACACAGGAAGCAGATTTGTTACAGGG... |
Task1_train_30267 | The gene IL2RG (interleukin 2 receptor subunit gamma) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; X-linked severe combined immunodeficiency | GGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGA... | GGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGA... |
Task1_train_30268 | Gene IL2RG (interleukin 2 receptor subunit gamma), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; X-linked severe combined immunodeficiency | GAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAG... | GAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAG... |
Task1_train_30269 | A sequence alteration has been identified in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; X-linked severe combined immunodeficiency | AAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAA... | AAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAA... |
Task1_train_30270 | Consider a variant on Chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma). Determine its clinical classification and disease relevance. | Pathogenic; X-linked severe combined immunodeficiency | AAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGG... | AAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGG... |
Task1_train_30271 | A sequence alteration has been identified in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; X-linked severe combined immunodeficiency | AAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGA... | AAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGA... |
Task1_train_30272 | This variant lies on Chromosome X and affects the gene IL2RG (interleukin 2 receptor subunit gamma). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; X-linked severe combined immunodeficiency | CAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAA... | CAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAA... |
Task1_train_30273 | This sequence variant lies in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; X-linked severe combined immunodeficiency | TAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCG... | TAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCG... |
Task1_train_30274 | A variant on Chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; X-linked severe combined immunodeficiency | ACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTC... | ACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTC... |
Task1_train_30275 | Consider this mutation in IL2RG (interleukin 2 receptor subunit gamma) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; X-linked severe combined immunodeficiency | CTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGC... | CTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGC... |
Task1_train_30276 | A variant affecting Chromosome X, within the gene IL2RG (interleukin 2 receptor subunit gamma), has been observed. Determine if it's benign or associated with disease. | Pathogenic; X-linked severe combined immunodeficiency | CCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCA... | CCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCA... |
Task1_train_30277 | A variant was discovered in gene IL2RG (interleukin 2 receptor subunit gamma), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked severe combined immunodeficiency | CTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAG... | CTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAG... |
Task1_train_30278 | A genomic change on Chromosome X affects IL2RG (interleukin 2 receptor subunit gamma). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked severe combined immunodeficiency | TAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAA... | TAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAA... |
Task1_train_30279 | Gene IL2RG, LOC126863274 (interleukin 2 receptor subunit gamma| MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGC... | CAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGC... |
Task1_train_30280 | Here is a variant affecting MED12 (mediator complex subunit 12) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; MED12-related intellectual disability syndrome | TGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTT... | TGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTT... |
Task1_train_30281 | Consider this mutation in LOC126863275, MED12 (BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599| mediator complex subunit 12) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; FG syndrome | CGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCT... | CGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCT... |
Task1_train_30282 | This alteration occurs within gene MED12 (mediator complex subunit 12) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked intellectual disability with marfanoid habitus | CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCT... | CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCT... |
Task1_train_30283 | Gene MED12 (mediator complex subunit 12) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; FG syndrome | CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCT... | CTTCCCTGTTTCCCTCTTCCTTCCTTCCCTCCCTCCCTCCTTCCATCTCTCCCTCCCTCCCTCCCATAGCCTTCTCTCCATACCCCACTCCCCACCCCTAGTCAACTAGTTATCTTCCCTGTCTTGACTGGTCCCTTTCAACTGTCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCACTGCTGAAGATATCTTTGCTAAGTTCCAGCACCTTTCACATTATGACCAACACCAGGTCACGGCTCAGGTGTGGGCCTAAGCCCAGCCCCTTTCCCACATTCTGGCCTCCTGTTCT... |
Task1_train_30284 | The gene MED12 (mediator complex subunit 12) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; FG syndrome 1 | AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTT... | AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTT... |
Task1_train_30285 | The following genetic variant occurs in MED12 (mediator complex subunit 12) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; FG syndrome | AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTT... | AGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTT... |
Task1_train_30286 | This sequence change occurs on Chromosome X, altering MED12 (mediator complex subunit 12). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Blepharophimosis - intellectual disability syndrome, MKB type | CATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTT... | CATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTT... |
Task1_train_30287 | A mutation on Chromosome X affecting MED12 (mediator complex subunit 12) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; FG syndrome | TCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGC... | TCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGC... |
Task1_train_30288 | With a mutation on Chromosome X in gene MED12 (mediator complex subunit 12), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Blepharophimosis - intellectual disability syndrome, MKB type | CCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCA... | CCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCA... |
Task1_train_30289 | A genomic change on Chromosome X affects NLGN3 (neuroligin 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autism, susceptibility to, X-linked 1 | GGAAAGGTAGTTGGTTGAGATGGGCTGTTGGGGACAAGGAGGCGGGGCAAGGCGGTGCAGAGAGGCCAGCACAGCAGGGGCCTGCAACACCATCATCCTGATGAAGGTCTGGGCCTCAGCCCACCCATTCCCTCAGTTCTTGCCATCCCTCCTGCCTGTCCTGGGCCCAGGCCCGGAGCTGGCTTGCTGGGCCACACTGCAGTCATGCTGTTTTTGAATTCTCTCTCTGTTTTGTTCTCTGTTCTGTGCTGTTGTGTCTCCCCGTGTCTGGTCCCCAGGATCCGGCGCTAAGAAACAGGGCGAGGACTTAGCGGATAATG... | GGAAAGGTAGTTGGTTGAGATGGGCTGTTGGGGACAAGGAGGCGGGGCAAGGCGGTGCAGAGAGGCCAGCACAGCAGGGGCCTGCAACACCATCATCCTGATGAAGGTCTGGGCCTCAGCCCACCCATTCCCTCAGTTCTTGCCATCCCTCCTGCCTGTCCTGGGCCCAGGCCCGGAGCTGGCTTGCTGGGCCACACTGCAGTCATGCTGTTTTTGAATTCTCTCTCTGTTTTGTTCTCTGTTCTGTGCTGTTGTGTCTCCCCGTGTCTGGTCCCCAGGATCCGGCGCTAAGAAACAGGGCGAGGACTTAGCGGATAATG... |
Task1_train_30290 | Consider a variant on Chromosome X in gene NLGN3 (neuroligin 3). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability | AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAA... | AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAA... |
Task1_train_30291 | With a mutation on Chromosome X in gene NLGN3 (neuroligin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autistic behavior | AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAA... | AGAGTAGCTGGGGACTACAGGTGCATGCTACCATGCCCGGCTAATTTTGGGGATAAATTTTTTTTTGTAGAGACAGGTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCGAGGTTTGACTTCTTTAAAGATCTGTTCTCTCTGTTTTTCTGTAATTGATGCATGGAGAATAATCTTTGGGAAAATGAGGCTGTCTTTTAAGTAGTAATCTATCATTTCTTTCCCTCTCTTTCCACTCATGCAAA... |
Task1_train_30292 | This sequence change occurs on Chromosome X, altering GJB1 (gap junction protein beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAA... | CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAA... |
Task1_train_30293 | The gene GJB1 (gap junction protein beta 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAA... | CTTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAA... |
Task1_train_30294 | Here’s a variant in GJB1 (gap junction protein beta 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAA... | TTGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAA... |
Task1_train_30295 | This mutation occurs in GJB1 (gap junction protein beta 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAA... | TGCAACTTAATGGCAGAAGTGGCAAGAGGTGGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAA... |
Task1_train_30296 | A variant found in Chromosome X affects GJB1 (gap junction protein beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACA... | GAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACA... |
Task1_train_30297 | Chromosome X houses a mutation in gene GJB1 (gap junction protein beta 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | GAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATA... | GAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATA... |
Task1_train_30298 | A change on Chromosome X affects gene GJB1 (gap junction protein beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... |
Task1_train_30299 | The gene GJB1 (gap junction protein beta 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... |
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